Gene
CRELD1
CRELD disulfide isomerase 1
- HGNC 14630↗(opens in a new tab)
- Ensembl gene ENSG00000163703↗(opens in a new tab)
- NCBI Gene 78987↗(opens in a new tab)
Summary
- Cytogenetic location
- 3p25.3
- Coordinates
- Chromosome 3: 9,933,834–9,945,406 (GRCh38)
- Exons
- 11 exons across 11.6 kb
- Protein
- 420 amino acids
- Also known as
- CIRRIN
- Previous symbols
- AVSD2
- MANE Select transcript
- ENST00000452070.6NM_001077415.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads CRELD1 yet. The test sequences your whole genome, so your data includes it all the same.
How CRELD1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.2 kb of the gene's 11.6 kb; 1,263 of those bases code for the protein.
How a genome test reads CRELD1
9
positions in CRELD1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 11.6 kb of CRELD1, introns included, not only the 2.2 kb of exons.
Traits linked to CRELD1
The Human Phenotype Ontology lists these as features of the rare conditions CRELD1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Abnormal gait
- Delayed fine motor development
- Generalized-onset seizure
- Global developmental delay
- Seizure affecting one half of brain
- Delayed motor skills
- Delayed speech and language development
- Bilateral tonic-clonic seizure with generalized onset
Show 20 more traits
- Inability to walk
- Myoclonic seizure
- Repeated seizures without recovery between them
- Abnormal autonomic nervous system physiology
- Ataxia
- Atypical absence seizure
- Clonic seizure
- Clonus
- Delayed myelination
- Febrile seizure (within the age range of 3 months to 6 years)
- Focal impaired awareness seizure
- Infantile spasms
- Jerking
- Obstructive sleep apnea
- Oral aversion
- Paralysis of all four limbs
- Persistent head lag
- Sudden loss of muscle tone
- Teeth grinding
- Weakness of one side of body
Abnormality of the eye
- Cross-eyed
- Drooping upper eyelid
- Farsightedness
- Astigmatism
- Bulging eye
- Close sighted
- Drooping of both upper eyelids
- Involuntary, rapid, rhythmic eye movements
Show 3 more traits
Abnormality of the cardiovascular system
- Abnormal heart rate
- Partial atrioventricular canal defect
- Heart tip and four chambers point towards right side of body
- Pulmonary artery atresia
- Right aortic arch with mirror image branching
- Heart stops beating
- Slow heartbeats
- Strawberry mark
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). CRELD1 gene: CRELD disulfide isomerase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/creld1
Dante Labs. CRELD1 gene: CRELD disulfide isomerase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/creld1
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